Cited by 984Genetic Neurodegenerative DiseasesNeurological disorders and treatmentsNeurological diseases and metabolism

Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data

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Tabrizi, Sarah J, Langbehn, Douglas R, Leavitt, Blair R, Roos, Raymund AC, Durr, Alexandra, Craufurd, David, Kennard, Christopher, Hicks, Stephen L +9 more·2009·The Lancet Neurology

Abstract

Background Huntington's disease (HD) is an autosomal dominant, fully penetrant, neurodegenerative disease that most commonly affects adults in mid-life. Our aim was to identify sensitive and reliable biomarkers in premanifest carriers of mutated HTT and in individuals with early HD that could provide essential methodology for the assessment of therapeutic interventions.Methods This multicentre study uses an extensive battery of novel assessments, including multi-site 3T MRI, clinical, cognitive, quantitative motor, oculomotor, and neuropsychiatric measures. Blinded analyses were done on the baseline cross-sectional data from 366 individuals: 123 controls, 120 premanifest (pre-HD) individuals, and 123 patients with early HD.Findings The first participant was enrolled in January, 2008, and all assessments were completed by August, 2008. Cross-sectional analyses identified significant changes in whole-brain volume, regional grey and white matter differences, impairment in a range of voluntary neurophysiological motor, and oculomotor tasks, and cognitive and neuropsychiatric dysfunction in premanifest HD gene carriers with normal motor scores through to early clinical stage 2 disease.Interpretation We show the feasibility of rapid data acquisition and the use of multi-site 3T MRI and neurophysiological motor measures in a large multicentre study. Our results provide evidence for quantifiable biological and clinical alterations in HTT expansion carriers compared with age-matched controls. Many parameters differ from age-matched controls in a graded fashion and show changes of increasing magnitude across our cohort, who range from about 16 years from predicted disease diagnosis to early HD. These findings might help to define novel quantifiable endpoints and methods for rapid and reliable data acquisition, which could aid the design of therapeutic trials.

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  • The findings are consistent with prior studies suggesting that physiologic changes may be detectable before behavioral changes become manifest in a variety of neurological and neurodevelopmental disorders.

    “Our findings are consistent with prior studies suggesting that physiologic changes may be detectable before behavioral changes become manifest in a variety of neurological and neurodevelopmental disorders [36–43].”

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  1. [40]Tibben A Bates GP Harper PS Jones L Genetic counselling and presymptomatic testing Huntington‘s disease 2002 Oxford Oxford Medical Publishers 198 250

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Authors
Tabrizi, S. J., Langbehn, D. R., Leavitt, B. R., Roos, R. A., Durr, A., Craufurd, D., Kennard, C., Hicks, S. L., Fox, N. C., Scahill, R. I., Borowsky, B., Tobin, A. J., Rosas, H. D., Johnson, H., Reilmann, R., Landwehrmeyer, B., & Stout, J. C.
Affiliations
  • National Hospital for Neurology and Neurosurgery (GB)
  • University of Iowa (US)
  • University of British Columbia (CA)
  • Leiden University (NL)
  • St Mary's Hospital (GB)
  • University of Oxford (GB)
  • CHDI Foundation (US)
  • Harvard University (US)
  • University of Münster (DE)
  • Indiana University Bloomington (US)
Corresponding author
Tabrizi, Sarah J
Venue
The Lancet Neurology
Publisher
Elsevier BV
Published
2009-09
Volume
8
Issue
9
Pages
791-801
ISSN
1474-4422 (ISSN-L)
OpenAlex
W2124660038
Cited by
984
References
40
Citations by year
2026: 37 · 2025: 44 · 2024: 51 · 2023: 44 · 2022: 56 · 2021: 64 · 2020: 69 · 2019: 63 · 2018: 74 · 2017: 59 · 2016: 54 · 2015: 70 · 2014: 63 · 2013: 63 · 2012: 69
FWCI
23.70
Type
journal article
Language
en
Open access
Locations
  • The Lancet Neurology (publishedVersion)
  • PubMed (publishedVersion)
  • Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
  • Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • Pure Amsterdam UMC (submittedVersion)
  • LSHTM Research Online (London School of Hygiene and Tropical Medicine) (submittedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
Funders
  • National Institute for Health and Care Research (NF-SI-0508-10123)
  • National Institute of Neurological Disorders and Stroke (R01NS042861, P01NS058793)
  • National Center for Research Resources (M01RR001066)
Topics
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
  • Health Sciences › Medicine › Neurology › Neurological disorders and treatments
  • Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords
Huntington's disease, TRACK-HD, premanifest Huntington's disease, biomarkers, brain volume, gray and white matter, motor impairment, eye movement disorders, cognitive impairment, neuropsychiatric symptoms, 3T MRI, multicenter study
MeSH terms
Adolescent, Adult, Aged, Atrophy, Brain, Cognition Disorders, Cross-Sectional Studies, Female, Genetic Testing, Genetic Carrier Screening, Humans, Huntington Disease, Longitudinal Studies, Magnetic Resonance Imaging, Male, Middle Aged, Neurologic Examination, Predictive Value of Tests, Reference Values, Cohort Studies, Biomarkers, Disease Progression, Genetic Predisposition to Disease, Early Diagnosis, Young Adult

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